Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity

被引:29
作者
Chung, KF
Hew, M
Score, J
Jones, AV
Reiter, A
Cross, NCP
Bain, BJ
机构
[1] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW3 6LY, England
[2] Royal Brompton Hosp, London SW3 6LY, England
[3] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England
[4] Univ Heidelberg, Fak Klin Med Mannheim, Med Univ Klin 3, Heidelberg, Germany
关键词
cough; fusion gene; hypereosinophilic syndrome; imatinib; tyrosine kinase;
D O I
10.1183/09031936.06.00089405
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
Eosinophil-associated conditions, such as asthma and eosinophilic bronchitis, have been associated with chronic persistent cough, usually responding to corticosteroid therapy. This case study reports a case of persistent cough associated with gastro-oesophageal reflux (GOR) and hypereosinophilia. Treatment of GOR with proton pump inhibitors and fundoplication did not control the cough. However, high dose prednisolone, but not inhaled corticosteroids, did. The presence of the FIP1L1-PDGFRA fusion gene in myeloid cells was confirmed by fluorescence in situ hybridisation analysis using CHIC2 deletion as a surrogate marker. The cough and other disease features were subsequently suppressed by the tyrosine kinase inhibitor, imatinib. This is the first case of persistent cough caused by hypereosinophilic syndrome characterised by FIP1L1-PDGFRA fusion gene and aberrant tyrosine kinase activity.
引用
收藏
页码:230 / 232
页数:3
相关论文
共 12 条
[1]   A case of hypereosinophilic syndrome is associated with the expansion of a CD3(-)CD4(+) T-cell population able to secrete large amounts of interleukin-5 [J].
Brugnoni, D ;
Airo, P ;
Rossi, G ;
Bettinardi, A ;
Simon, HU ;
Garza, L ;
Tosoni, C ;
Cattaneo, R ;
Blaser, K ;
Tucci, A .
BLOOD, 1996, 87 (04) :1416-1422
[2]   A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome [J].
Cools, J ;
DeAngelo, DJ ;
Gotlib, J ;
Stover, EH ;
Legare, RD ;
Cortes, J ;
Kutok, J ;
Clark, J ;
Galinsky, I ;
Griffin, JD ;
Cross, NCP ;
Tefferi, A ;
Malone, J ;
Alam, R ;
Schrier, SL ;
Schmid, J ;
Rose, M ;
Vandenberghe, P ;
Verhoef, G ;
Boogaerts, M ;
Wlodarska, I ;
Kantarjian, H ;
Marynen, P ;
Coutre, SE ;
Stone, R ;
Gilliland, DG .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (13) :1201-1214
[3]   The diagnosis and treatment of cough [J].
Irwin, RS ;
Madison, JM .
NEW ENGLAND JOURNAL OF MEDICINE, 2000, 343 (23) :1715-1721
[4]   THE SPECTRUM AND FREQUENCY OF CAUSES, KEY COMPONENTS OF THE DIAGNOSTIC EVALUATION, AND OUTCOME OF SPECIFIC THERAPY [J].
IRWIN, RS ;
CURLEY, FJ ;
FRENCH, CL .
AMERICAN REVIEW OF RESPIRATORY DISEASE, 1990, 141 (03) :640-647
[5]   Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness [J].
Klion, AD ;
Noel, P ;
Akin, C ;
Law, MA ;
Gilliland, DG ;
Cools, J ;
Metcalfe, DD ;
Nutman, TB .
BLOOD, 2003, 101 (12) :4660-4666
[6]   Pathophysiology and clinical presentations of cough [J].
Lalloo, UG ;
Barnes, PJ ;
Chung, KF .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 1996, 98 (05) :S91-S96
[7]   Effects of an interleukin-5 blocking monoclonal antibody on eosinophils, airway hyper-responsiveness, and the late asthmatic response [J].
Leckie, MJ ;
ten Brinke, A ;
Khan, J ;
Diamant, Z ;
O'Connor, BJ ;
Walls, CM ;
Mathur, AK ;
Cowley, HC ;
Chung, KF ;
Djukanovic, R ;
Hansel, TT ;
Holgate, T ;
Sterk, PJ ;
Barnes, PJ .
LANCET, 2000, 356 (9248) :2144-2148
[8]   Evaluation and outcome of patients with chronic non-productive cough using a comprehensive diagnostic protocol [J].
McGarvey, LPA ;
Heaney, LG ;
Lawson, JT ;
Johnston, BT ;
Scally, CM ;
Ennis, M ;
Shepherd, DRT ;
MacMahon, J .
THORAX, 1998, 53 (09) :738-743
[9]   Reduced pH and chloride levels in exhaled breath condensate of patients with chronic cough [J].
Niimi, A ;
Nguyen, LT ;
Usmani, O ;
Mann, B ;
Chung, KF .
THORAX, 2004, 59 (07) :608-612
[10]   Chronic cough due to gastroesophageal reflux disease - Efficacy of antireflux surgery [J].
Novitsky, YW ;
Zawacki, JK ;
Irwin, RS ;
French, CT ;
Hussey, VM ;
Callery, MP .
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES, 2002, 16 (04) :567-571